Browsing by Author "Azevedo, A."
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- Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndromePublication . Nogueira, Célia; Marques, J.S.; Nesti, C.; Azevedo, A.; Di Lullo, M.; Meschini, M.C.; Orlacchio, A.; Videira, A.; Santorelli, F.M.; Vilarinho, L.Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (IOSCA), progressive external ophthalmoplegia, and the hepatocerebral mtDNA depletion syndrome (MDS). The signs in IOSCA demonstrate a fairly distinct pattern. Among these, peripheral neuropathy seems to be the most common presenting feature in C10orf2 defects.
- Pilot project on the implementation of SSD2 in the frame of the electronic transmission of harmonized data collection of analytical results to EFSAPublication . Parreira, Diana; Tomé, Sidney; Ravasco, F.; Azevedo, A.; Mascarenhas, Fernanda; Viegas, Silvia; Vilarinho, Fernanda; Brazão, Roberto; Oliveira, Luisa